Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: Identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts [1]

American Journal of Human Genetics

Volumn 63, Issue 6, 1998, Pages 1898-1903

  Shimozawa, N ^a   Suzuki, Y ^a   Zhang, Z ^a   Imamura, A ^a   Kondo, N ^a   Kinoshita, N ^a   Fujiki, Y ^a   Tsukamoto, T ^a   Osumi, T ^a   Imanaka, T ^a   Orii, T ^a   Beemer, F ^a   Mooijer, P ^a   Dekker, C ^a   Wanders, R J A ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN;

BIOGENESIS; CHO CELL; CHONDRODYSPLASIA PUNCTATA; CONTROLLED STUDY; FIBROBLAST; GENETIC COMPLEMENTATION; HUMAN; IMMUNOCYTOCHEMISTRY; IMMUNOFLUORESCENCE MICROSCOPY; LETTER; MUTATION; NONHUMAN; PEROXISOME; PRIORITY JOURNAL; YEAST;

CRICETINAE; CRICETULUS GRISEUS;

EID: 0032471958     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302142     Document Type: Letter

References (34)

1. RJ Baerends SW Rasmussen RE Hilbrands M van der Heide KN Faber PT Reuvekamp JA Kiel The Hansenula polymorpha PER9 gene encodes a peroxisomal membrane protein essential for peroxisome assembly and integrity J Biol Chem 271 1996 8887 8894
2. N Braverman G Steel C Obie A Moser H Moser SJ Gould D Valle Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata Nat Genet 15 1997 369 376
3. S Brul A Westerveld A Strijland RJA Wanders AW Schram HSA Heymans RBH Schutgens Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions: a study using complementation analysis J Clin Invest 81 1988 1710 1715
4. CC Chang WH Lee H Moser D Valle SJ Gould Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders Nat Genet 15 1997 385 388
5. G Dodt N Braverman C Wong A Moser HW Moser P Watkins D Valle Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders Nat Genet 9 1995 115 125
6. G Dodt SJ Gould Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor J Cell Biol 135 1996 1763 1774
7. S Fukuda N Shimozawa Y Suzuki Z Zhang S Tomatsu T Tsukamoto N Hashiguchi Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans Am J Hum Genet 59 1996 1210 1220
8. SJ Gould JE Kalish JC Morrell J Bjorkman AJ Urquhart DI Crane Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTS1 receptor J Cell Biol 135 1996 85 95
9. T Imanaka Y Shiina T Takano T Hashimoto T Osumi Insertion of the 70-kDa peroxisomal membrane protein into peroxisomal membranes in vivo and in vitro J Biol Chem 271 1996 3706 3713
10. K Kamijo T Kamijo I Ueno T Osumi T Hashimoto Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters Biochem Biophys Acta 1129 1992 323 327
11. N Kinoshita K Ghaedi N Shimozawa RJA Wanders Y Matsuzono T Imanaka K Okumoto Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (peroxisomal ghosts), representing a novel complementation group in mammals J Biol Chem 273 1998 24122 24130
12. AB Moser M Rasmussen S Naidu PA Watkins M McGuinness AK Hajra G Chen Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups J Pediatr 127 1995 13 22
13. J Mosser Y Lutz ME Stoeckel CO Sarde C Kretz AM Douar J Lopez The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein Hum Mol Genet 3 1994 265 271
14. AM Motley EH Hettema EM Hogenhout P Brites AL ten Asbroek FA Wijburg F Baas Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor Nat Genet 15 1997 377 380
15. K Okumoto Y Fujiki Pex12 encodes an integral membrane protein of peroxisomes Nat Genet 17 1997 265 266
16. H Portsteffen A Beyer E Becker C Epplen A Pawlak WH Kunau G Dodt Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders Nat Genet 17 1997 449 452
17. A Poulos J Christodoulou CW Chow J Goldblatt BC Paton T Orii Y Suzuki Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group J Pediatr 127 1995 596 599
18. PE Purdue JW Zhang M Skoneczny PB Lazarow Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor Nat Genet 15 1997 381 384
19. BE Reuber LE Germain CS Collins JC Morrell R Ameritunga HW Moser D Valle Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders Nat Genet 17 1997 445 448
20. AA Roscher G Hoefler S Hoefler E Paschke F Paltauf A Moser H Moser Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis—a complementation study involving cell lines from 19 patients Pediatr Res 26 1989 67 72
21. MJ Santos S Hoefler AB Moser HW Moser PB Lazarow Peroxisome assembly mutations in humans: structural heterogeneity in Zellweger syndrome J Cell Physiol 151 1992 103 112
22. MJ Santos T Imanaka H Shio GM Small PB Lazarow Peroxisomal membrane ghosts in Zellwegersyndrome—aberrant organelle assembly Science 239 1988 1536 1538
23. N Shimozawa Y Suzuki T Orii A Moser HW Moser RJ Wanders Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect Am J Hum Genet 52 1993 843 844
24. N Shimozawa Y Suzuki T Orii S Yokota T Hashimoto Biochemical and morphologic aspects of peroxisomes in the human rectal mucosa: diagnosis of Zellweger syndrome simplified by rectal biopsy Pediatr Res 24 1988 723 727
25. N Shimozawa Y Suzuki S Tomatsu T Tsukamoto T Osumi Y Fujiki K Kamijo Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients Pediatr Res 39 1996 812 815
26. N Shimozawa Y Suzuki Z Zhang A Imamura T Tsukamoto T Osumi T Tateishi Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome deficient CHO mutants and not complemented by human PEX 13 Biochem Biophys Res Commun 243 1998 368 371
27. N Shimozawa T Tsukamoto Y Suzuki T Orii Y Fujiki Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome J Clin Invest 90 1992 a 1864 1870
28. N Shimozawa T Tsukamoto Y Suzuki T Orii Y Shirayoshi T Mori Y Fujiki A human gene responsible for Zellweger syndrome that affects peroxisome assembly Science 255 1992 b 1132 1134
29. Y Suzuki N Shimozawa S Yajima S Yamaguchi T Orii T Hashimoto Effects of sodium2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases Biochem Pharmacol 41 1991 453 456
30. K Tateishi K Okumoto N Shimozawa T Tsukamoto T Osumi Y Suzuki N Kondo Newly identified Chinese hamster ovary cell mutants defective in peroxisome biogenesis represent two novel complementation groups in mammals Eur J Cell Biol 73 1997 352 359
31. M Wendland S Subramani Presence of cytoplasmic factors functional in peroxisomal protein import implicate organelle-associated defects in several human peroxisomal disorders J Clin Invest 92 1993 2462 2468
32. EAC Wiemer GH Luers KN Faber T Wenzel M Veenhuis S Subramani Isolation and characterization of Pas2p, a peroxisomal membrane protein essential for peroxisome biogenesis in the methylotrophic yeast pichia pastoris J Biol Chem 271 1996 18973 18980
33. T Yahraus N Braverman G Dodt JE Kalish JC Morrell HW Moser D Valle The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor EMBO J 15 1996 2914 2923
34. S Yajima Y Suzuki N Shimozawa S Yamaguchi T Orii Y Fujiki T Osumi Complementation study of peroxisome-deficient staining and characterization of fused cells Hum Genet 88 1992 491 499